Advancements in exome sequencing is providing a lot of answers for Manning children previously left in the dark about their health problems.
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This is according to Hunter New England Health genetic counsellor Bruce Hopper, who encouraged all residents to raise funds for the Children's Medical Research Institute (CMRI) on Jeans for Genes Day.
"Because of new technology, we've now found an answer as to what the underlying cause is for that person," Mr Hopper said.
"Then we know what specialist they need to see."
He said genetics research has 'changed phenomenally' in the past five years.
"Five years ago, we were trying to look at the genome in chunks still and we had some good pick-ups on children we hadn't been able to diagnose before, but now we can look at the number of genes," Mr Hopper explained.
"Exoming is where we can sequence the human genome. We are looking at all the genes and so from doing that we can find the causes of people's concerns so we can work out what that means for them."
Going forward, Mr Hopper said new medications are being targeted at specific gene mutations.
"The more testing we can do through organisations like the CMRI, it can lead to better outcomes for children's prognosis," Mr Hopper added.
Mr Hopper did a grand round at Manning Base Hospital yesterday to share this information with colleagues.
With COVID-19 restrictions in place, Community Health and Manning Base Hospital staff will have a morning tea, complete with pancakes, today to recognise Jeans for Genes Day and raise funds for medical research.
Mr Hopper wants people to have fun on the day, given the tough times at the hospital due to the pandemic.
Also, don't forget to put on a pair of jeans.
Geneticists at the CMRI continue work to find answers as to why children are born with birth problems such as cystic fibrosis and brain cancer.
To make a donation, visit jeansforgenes.org.au.